BRIEF RESEARCH REPORT article
Front. Psychiatry
Sec. Perinatal Psychiatry
This article is part of the Research TopicVitamin B12 Deficiency: Rising Trends and Comprehensive Strategies for Diagnosis and ManagementView all articles
Encephalitis-Like Presentation of Methylmalonic Acidemia with Homocystinuria in a Postpartum Woman: A Case Report
Provisionally accepted
- 1Affiliated Hospital of Jining Medical University, Jining, China
- 2Jining Medical University, Jining, China
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Methylmalonic acidemia with homocystinuria (MMA-HC) is a rare inherited metabolic disorder characterized by diverse and nonspecific clinical manifestations. Here, we report the first case of MMA-HC presenting in the postpartum period, aiming to enhance clinicians' awareness and diagnostic capabilities regarding this condition. This will help prevent misdiagnosis and missed diagnosis, thereby enabling timely and effective treatment for patients. A 17-year-old woman who underwent cesarean section presented with encephalitis-like symptoms shortly after childbirth, including fever, headache, psychiatric disturbances, and limb weakness, accompanied by a progressive macrocytic anemia that worsened significantly from the late prenatal to the early postpartum period, along with markedly elevated red cell distribution width (RDW) and leukopenia and severe hyperhomocysteinemia. Genetic testing confirmed cblC-type MMA-HC. A metabolic crisis was triggered after administering valproate for seizures. The patient was effectively treated with a multidisciplinary approach, highlighting the importance of careful clinical monitoring and systematic metabolic screening in peripartum women presenting with progressive hematological abnormalities and encephalopathic symptoms. It further validates the critical role of early diagnosis and multidisciplinary comprehensive treatment in managing complex inherited metabolic disorders, thereby contributing to enhanced overall diagnostic and therapeutic standards.
Keywords: encephalopathy, Hyperhomocysteinemia, Metabolism of Cobalamin Associated C Gene, Methylmalonic Acidemia with Homocystinuria, postpartum depression, Postpartum Period
Received: 03 Nov 2025; Accepted: 15 Jan 2026.
Copyright: © 2026 Wang, Ji, Wang and Qi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Ziyou Qi
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